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Volumn 121, Issue 3, 2003, Pages 475-477

Mutations in ATP2A2 in patients with Darier's disease [1]

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION;

EID: 0041833760     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12400.x     Document Type: Article
Times cited : (43)

References (13)
  • 1
    • 0036064532 scopus 로고    scopus 로고
    • Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease
    • Chao SC, Yang MH, Lee JY: Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease. Br J Dermatol 146:958-963, 2002
    • (2002) Br J Dermatol , vol.146 , pp. 958-963
    • Chao, S.C.1    Yang, M.H.2    Lee, J.Y.3
  • 2
    • 0030853052 scopus 로고    scopus 로고
    • Strategy for identification of sequence variants In COLTA1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
    • Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai K, Greenspan DS, Uitto J: Strategy for identification of sequence variants In COLTA1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 10:408-414, 1997
    • (1997) Hum Mutat , vol.10 , pp. 408-414
    • Christiano, A.M.1    Hoffman, G.G.2    Zhang, X.3    Xu, Y.4    Tamai, K.5    Greenspan, D.S.6    Uitto, J.7
  • 4
    • 0033986288 scopus 로고    scopus 로고
    • Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
    • Hu Z, Bonifas JM, Beech J, et al: Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nature Genet 24:61-65, 2000
    • (2000) Nature Genet , vol.24 , pp. 61-65
    • Hu, Z.1    Bonifas, J.M.2    Beech, J.3
  • 5
    • 0032848744 scopus 로고    scopus 로고
    • ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
    • Jacobsen NJO, Lyons I, Bastiaan H, et al: ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet 8:1631-1636, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 1631-1636
    • Jacobsen, N.J.O.1    Lyons, I.2    Bastiaan, H.3
  • 7
    • 0035137616 scopus 로고    scopus 로고
    • Darier disease - Novel mutations in ATP2A2 and genotype-phenotype correlation
    • Ringpfeil F, Raus A, DiGiovanna JJ, et al: Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol 10:19-27, 2001
    • (2001) Exp Dermatol , vol.10 , pp. 19-27
    • Ringpfeil, F.1    Raus, A.2    DiGiovanna, J.J.3
  • 8
    • 0032877634 scopus 로고    scopus 로고
    • ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
    • Ruiz-Perez VL, Carter SA, Healy E, et al: ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet 8:1621-1630, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 1621-1630
    • Ruiz-Perez, V.L.1    Carter, S.A.2    Healy, E.3
  • 10
    • 0032850659 scopus 로고    scopus 로고
    • Spectrum of novel ATP2A2 mutations in patients with Darier's disease
    • Sakuntabhai A, Burge S, Monk S, Hovnanian A: Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Hum Mol Genet 8:1611-1619, 1999b
    • (1999) Hum Mol Genet , vol.8 , pp. 1611-1619
    • Sakuntabhai, A.1    Burge, S.2    Monk, S.3    Hovnanian, A.4
  • 11
  • 13
    • 0035093488 scopus 로고    scopus 로고
    • Novel point mutations of the ATP 2A2 gene in two Chinese families with Darier disease
    • Yang Y, Li G, Bu D, Zhu X: Novel point mutations of the ATP2A2 gene in two Chinese families with Darier disease. J Invest Dermatol 116:482-483, 2001
    • (2001) J Invest Dermatol , vol.116 , pp. 482-483
    • Yang, Y.1    Li, G.2    Bu, D.3    Zhu, X.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.